Hypoplasia of the connective tissue. Undifferentiated connective tissue dysplasia

- disease associated with malformation connective tissue the fetus is still in the womb. The disease is hereditary. Nature lies in the defect in the synthesis of the protein responsible for the production of collagen, fibrillin (extracellular matrix). Insufficient or excessive production of these substances leads to pathology in the form of connective tissue dysplasia.

Doctors do not define dysplasia as a separate disease, the lesion covers the work of the whole organism, without isolating a specific affected organ. 50% of schoolchildren were diagnosed with connective tissue dysplasia.

There is no single classification of DST. Dysplasia is classified according to several factors. Below are two common classifications - by type and by syndrome.

By type, the disease is divided into:

Differentiated connective tissue dysplasia (DDST) is a subspecies of dysplasia, in which the syndromes of organs and affected areas characteristic of the type are clearly traced. The group includes: Marfan syndrome, Ehlers-Danlos syndrome, Alport syndrome, osteogenesis imperfecta. DDST is less common in childhood, quickly determined by a doctor due to severe symptoms.
Undifferentiated connective tissue dysplasia (NDCT) - affects a vast area of organs, carries a defective development of connective tissue. If a child complains of a number of types of pain at once, and doctors in each specialization make their own diagnoses, you should think about dysplasia. The following is a brief list of symptoms that characterize the NDS syndrome:

Complaints of the child on pain in the joints.
Fatigue, loss of concentration.
Frequent respiratory diseases.
Vision change.
Problems with the gastrointestinal tract (constipation, dysbacteriosis, bloating, abdominal pain).
Diagnosis of muscular hypotension, flat-valgus feet, clubfoot, scoliosis.
Excessive thinness, poor appetite.

Even with these symptoms, children with CTD grow mobile. If you suspect that a child has a syndrome, you should contact the clinic, where they will offer a set of laboratory tests, consultations of the necessary doctors, who, led by the attending pediatrician, will make a diagnosis and prescribe treatment.

Each case of CTD is unique and is accompanied by a number of syndromes, it was decided to classify dysplasia according to the totality of symptoms:

Arrhythmic syndrome, includes incorrect work of the heart.
The syndrome of autonomic dysfunction manifests itself through sympathicotonia, vagotonia.
Vascular syndrome: damage to the arteries.
Syndrome of immunological disorders: immunodeficiency, allergic syndrome.
Vision pathology syndrome.

Symptoms of connective tissue dysplasia

Symptoms of CTD are divided into phenotypic (external) and visceral (internal).

Phenotypic symptoms:

Constitutional features of the body structure, non-standard development of the bone skeleton. Big feet.
Curvature of the spine, scoliosis.
Incorrect bite, violation of the symmetry of the face.
Flat feet, clubfoot.
The skin is dry, prone to excessive extensibility. The epithelium is susceptible to striae, pigmentation, and capillaries. Tendency to varicose veins.

Visceral symptoms:

The defeat of the central nervous system, the autonomic nervous system.
Frequent headaches, migraine.
Problems with the genitourinary system, enuresis, nephroptosis. In women with DST syndrome, uterine prolapse and frequent miscarriages are often recorded.
Excitability, increased anxiety.
The gastrointestinal tract, respiratory system, vision are affected.

Often the symptoms mislead doctors who prescribe local treatment: only what worries when it is required to be treated according to the correct diagnosis.

Diagnosis of connective tissue dysplasia

If connective tissue dysplasia is suspected, the doctor prescribes a clinical and genealogical study, including clinical studies, family history and genetic analysis. A mandatory measurement of the child is carried out for the correspondence of the percentage of limbs in relation to the body, the size of the foot, the length of the arms, and the circumference of the head are measured. A common "wrist test" is when a child is asked to wrap their little finger or thumb around their wrist. It is important for the doctor to assess the mobility of the joints, the assessment is carried out on the Beighton scale.

The child is prescribed studies: EchoCG, ECG, ultrasound of the abdominal cavity, kidneys and liver, chest X-ray and joints.

With the results of research and analysis, consultations are held with a neurologist, gastroenterologist, pulmonologist, rheumatologist, neurologist, ophthalmologist, immunologist. A cardiologist also pays attention to patients, since the syndrome is often accompanied by disturbances in the work of the heart - constant noises, ischemia, heart rhythm disturbance, which leads to premature consumption of the adaptive reserves of the heart muscle. The cardiologist prescribes treatment, taking into account the diagnosis of CTD. The child's family is invited to undergo a medical genetic examination.

After receiving a picture of the disease, the doctor makes a diagnosis and determines the nature of the treatment. A genetic disease cannot be destroyed, it is quite possible to slow down or stop the development of dysplasia. But the treatment is supposed to be regular.

Treatment of connective tissue dysplasia

Complex therapy is designed specifically with age-specific considerations, adapted to children's and adolescence. Subject to the recommendations, a child with dysplasia lives a full life, no different from the rest.

Parents of children with connective tissue dysplasia require, first of all, together with the child:

The course includes drug treatment, which involves taking drugs that improve mineral metabolism, stimulate the natural production of collagen, improve the bioenergetic state and increase the immunity and resistance of the child's body. Preparations are adapted for children.

Compliance with a special diet is a factor influencing the positive dynamics in the fight against connective tissue dysplasia in children. The diet of the child includes foods containing protein, as it helps the natural production of collagen. The daily menu includes: fish, meat, legumes, nuts and dried fruits. It is recommended to serve dishes enriched with such classes of vitamins as A, C, E, B, PP, Omega-3 and minerals. Mandatory to use rich broths, fruits and vegetables.

Excludes fast food, spicy, fried and fatty foods containing spices, as well as pickles and marinades. Overeating with sweets, pastries, confectionery is not allowed. Adults are not allowed to drink alcohol or smoke.

Separately, let's talk about the climate. Avoid living in hot weather climatic conditions and in conditions of high radiation.

Surgical treatment becomes an effective method of dealing with. The method is used exclusively for severe deformities of the musculoskeletal system and chest. Children with an obvious dislocation of the hip joint undergo open surgery for open reduction. Doctors advise to take expectant tactics for up to three years. At this age, it will be easier for the child to endure the effects of anesthesia.

In adolescence and youth, the patient needs psychological support. They are often worried about the future, this is due to frequent illnesses covering the body. The mobile brain of children draws terrible pictures in the imagination, a teenager often falls into depression. He is worried - fears are transformed into phobias. AT adolescence fixed the risk of developing anorexia nervosa, autism. They are hard to socialize. Already in adults with a diagnosis of connective tissue dysplasia, the standard of living decreases, with this type of dysplasia, a number of professions remain banned. Work associated with great emotional stress, hard physical labor, in workshops and factories where vibration and radiation, elevated temperatures are possible, at height and underground are strictly prohibited for people with connective tissue dysplasia.

Parents of such children need to be aware of the risks in order to capture the manifestation of symptoms in time with visits to a psychologist. It is important to surround the child with attention and care, constantly work on his self-esteem and other psychological aspects of the manifestation of the disease.

With connective tissue dysplasia, the main and decisive moment in the results will be an appointment with a doctor and proper treatment. Since this type of disease progresses over the years, dysplasia captured in childhood will not affect the normal life of the child.

“Dis” is a prefix to a word that denies its positive meaning, “plasis” is development or formation. Accordingly, dysplasia is a phenomenon that describes a violation of the formation or development in this case of connective tissue. This tissue is ubiquitous and accounts for half of the human body weight. Most often, it is not directly responsible for the work of organs, but performs an auxiliary function. But since its mass is about 60%, and sometimes 90% of the mass of the organ, violations of its formation can seriously affect the work of the organ whose connective tissue has suffered.

Connective tissue dysplasia or DST is a whole complex of systemic diseases of a non-inflammatory nature. They are based on changes in collagen, fibroblasts, elastic fibrils, glycoproteins (biopolymers) and complex proteins called proteoglycans.

Sometimes other names are used to define this disease: connective tissue insufficiency, congenital collagenopathy. What if we are talking about the joints, the disease can be called hypermobility syndrome.

Connective tissue begins to form from the first days of the life of the embryo. Serious anomalies in its formation may be incompatible with life.

Connective tissue

Most often, the concept of "connective tissue" (CT) in humans is associated with cartilage, ligaments or fascia. These formations really belong to her. But in fact, there are several types of connective tissue. The connection between them is defined:

Origin (from the mesodermal parenchyma).
structural similarity.
Functionality (performing supporting functions).

Connective tissue forms a supporting frame (stroma) for any organ and its outer cover. For any ST, it is customary to distinguish three main functions:

Protective.
Trophic (nutrition).
reference.

Modern anatomy in the category of ST includes:

Cartilage and ligaments, articular bags and tendons, bones, perimysium and muscle sheath, sarcolemma (muscle cell membrane/fiber).
Sclera, iris.
Microglia, blood, synovial and intercellular fluid, lymph and others.

It can be both normal and have deviations:

In the direction of increased elasticity.
In the direction of increased stretch.

In the first case, medical practice did not record any deviations in the functioning of the body as a whole or individual organs. In the second case, deviations are observed and there are many such deviations. Therefore, medical scientists have singled out a complex of these deviations in a separate syndrome with the abbreviation SDST.

The most common visible manifestations of this syndrome are skeletal, muscle, and skin changes.

Although connective tissue dysplasia is not limited to these manifestations. And given such a variety of connective tissue structures, the polymorphism (diversity) of symptoms that demonstrates a defect in the development of these tissues becomes understandable.

Information about dysplasia

What is meant by connective tissue dysplasia? This is a group of diseases that is genetically determined and has heterogeneous symptoms, as well as. Violation of the formation of connective tissue occurs during periods of intrauterine or postnatal development. The disease is multi-symptomatic, because it can affect not only the joints and ligaments, but also manifest itself in the form of a malfunction internal organs.

Today, 14 types of fibrillar protein (collagen) are known, which is the basis for the construction of connective tissue. The process of its formation is not simple, and therefore, with gene mutations, it can be disrupted at any stage. As a result, “wrong” collagen is formed.

With serious mutations, changes in organs are so strong that they may even be incompatible with life or cause serious pathology. But more often one or more are inherited. pathological signs, for example, .

It is officially believed that this connective tissue dysplasia occurs in less than 10% of the world's population.

But presumably individual symptoms or small forms of the disease with a thorough examination can be detected in more than 60% of people considered healthy in terms of the development of TS.

The reasons

The main cause of the disease is a persistent change in the genes (mutation) responsible for the production of fibrillar protein, the necessary enzyme, carbohydrate-protein complexes or coenzymes. The synthesis of this protein is encoded by several dozen genes (about 40). Just over 1,000 possible mutations have been described to date. The process of discovering new genetic breakdowns is incomplete.

Mutagenic factors that lead to dysplastic phenomena include:

Complications during childbearing.
Psycho-emotional stress.
Pernicious habits of the mother (smoking, alcoholism, drug addiction).
Ecology and industrial hazards.
Diet errors (eating fast food, malnutrition, lack of nutrients, in particular magnesium).

Mutations lead to three types of protein chain abnormalities:

Elongation, or insertion.
Shortening, that is, to a deletion.
Point mutation (substitution of one of the amino acids).

Any of these disorders affects the ability of the connective tissue to withstand mechanical stress and is the cause of a change in the quality characteristics of the tissue.

When mutations first appear, they are usually subtle. The disease is not diagnosed, external manifestations are usually mistaken for phenotypic (external) features.

But from generation to generation, mutations accumulate, especially when two dysplastics meet, and characteristic clinical signs appear that are not limited to external defects. Pathology can affect the articular-ligamentous apparatus and internal organs.

Classification

How should connective tissue dysplasia be classified - this is one of the most contentious issues in medicine. There is no single classification. Attempts to classify it come down to several ways to distinguish types of pathology on the basis of:

Differentiation.
Generalizations (generalized, non-generalized).
The presence or absence of syndromes (syndromic, non-syndromic).
According to the severity of the symptoms.

Generalized include types of dysplastic changes that combine the involvement of at least three organs or systems in the pathological process. If CTD is manifested by phenotypic changes and affects at least one organ, such dysplasia is usually referred to as syndromic. According to the severity, it is customary to distinguish three forms:

Isolated forms.
Small forms.
Actually hereditary DST.

In the first case, pathological changes affect only one organ. In the second, three signs are diagnosed.

If possible, it is customary to differentiate the disease according to phenotypic (external) signs:

Differentiated dysplasia (DDST).
Undifferentiated dysplasia (NDST).

Consider differentiated and undifferentiated dysplasia in more detail.

Differentiated

This type of dysplasia is rare. An attempt to classify it was made in 2000 by a professor at the Department of Genetics of the University. Mechnikov, geneticist and pediatrician Kadurina. It is her classification that is now used, although it is limited only to hereditary syndromes.

Differentiated dysplasia includes specifically described disorders caused by known mutations in certain genes. At the same time, the type of biochemical disorders is clearly defined.

The most typical hereditary disorders in DDST are:

Beals syndrome or hereditary deformity of the fingers (arachnodactyly).
Syndrome "crystal man" (impaired osteogenesis, leading to brittle bones).
Ehlers-Danlos syndrome (too elastic and vulnerable skin). As part of this syndrome, the patient may show hypermobility of the joints, ophthalmic pathologies, prolapse of internal organs (ptosis), and bleeding.
Skin atrophy (elastosis).
Disorders of the metabolism of glycosaminoglycans (mucopolysaccharides).
Marfan syndrome (includes skeletal, myocardial and ophthalmic pathologies).
Scoliosis is dysplastic.

undifferentiated

Undifferentiated connective tissue dysplasia is characterized by signs that cannot be placed in the structure of hereditary syndromes described above. The frequency of this pathology is high. It is believed that its detection among the population reaches 80%.

Non-syndromic dysplasia is usually divided into several phenotypes. The main ones are 3:

Ehlers-like (excessive skin elasticity, increased joint mobility, generalized dysplasia).
MASS-like (thinning of the skin, anomalies in the structure of the skeleton, increased joint mobility, generalized dysplasia).
Marfanoid (damage to the valves of the myocardium, ophthalmopathology, arachnodactyly, generalized dysplasia in combination with increased leanness).

Main features

Connective tissue dysplasia is characterized by such a variety clinical manifestations that it is difficult to briefly describe them or select the leading symptoms. Therefore, medical science has identified a number of common signs, which include weakness, indigestion, headaches and breathing problems. External signs that are easy enough to diagnose, and symptoms that describe violations of the main systems:

Cardiac and bronchopulmonary disorders.
Ophthalmic pathologies.
Anomalies in the structure and functioning of the skeleton and joints.
Changes in the urinary system.
Diseases of the gastrointestinal tract.
reproductive disorders.
immunological changes.
Blood pathologies.
Neurogenic and mental illnesses.

When examining patients with a diagnosis of CTD, one can see:

Features of their constitution: asthenic constitution of the body, growth is usually above average, narrowness in the shoulders.
Microanomalies: protruding ears, low hairline, etc.
Anomalies in the development of the skeleton, if any.
Altered epidermal layer (its thinness, hemangiomas, spider veins or teleectasias and excessive elasticity), etc.

A striking example of skeletal anomalies can serve as deformities of the sternum and chest as a whole ("chicken breast" or keel deformity and changes in the form of a funnel),. Often the leg or both suffers in the form of O or X-deformity, lengthening, changes in the foot (flat feet, lengthening), etc.

The following symptoms are recognized as characteristic of connective tissue deficiency: cleft lip"and" cleft palate ", violation of the growth of teeth and bite. CT weakness leads to weakness of the muscle system that supports the internal organs, and their descent to the torticollis.

Dysplasia of the heart

Cardiac disorders or the syndrome of connective tissue dysplasia of the heart is a whole group of syndromic conditions. These include:

Arrhythmias.
Vascular pathologies.
Thoracodiaphragmatic syndrome (myocardial chambers are reduced due to dysplastic changes in the chest).
Violation of the work and structure of the valvular apparatus (all kinds of prolapses).
Defect of the IPP (interatrial septum).

DSTS is often manifested by excessive mobility of myocardial chords, the appearance additional chord, an open foramen ovale, thinning of the walls of the largest unpaired vessel (aorta), hypertension.

A feature of the syndrome of connective tissue dysplasia of the heart is that the pathology, proceeding with significant changes in the CT of the heart, often causes sudden death of the patient.

Heart dysplasia is often combined with pathological changes in the respiratory system (bronchiectasis, emphysema, spontaneous pneumothorax, etc.). It is accompanied by migraine, lability of the nervous system, speech disorders and enuresis.

Ophthalmic pathologies most characteristic of CTD are:

Violation of vision.
Subluxation of the lens.
Astigmatism.
Strabismus.

Diseases of the digestive system are most often expressed in diverticula, hernias and weakness of the gastric sphincters.

In women, dysplastic changes can cause uterine prolapse, self-abortions, and a rare pathology of the placenta - MDP (mesenchymal dysplasia). Men may have cryptochirism. This change in internal organs is not limited. Sometimes there is a doubling of the kidneys, a change in their shape. Patients with CTD often suffer from respiratory problems and allergies.

Diagnostics

Diagnosis of this pathology is not always carried out correctly and in a timely manner due to the large number of various symptoms. The diagnosis of undifferentiated connective tissue dysplasia is particularly difficult, mainly due to the lack of uniform diagnostic criteria.

Combinations of external (phenotypic) signs and pathology of internal organs are considered diagnostically significant. To identify the latter, use:

Ultrasonic Methods(ultrasound of the pelvic organs, kidneys and echocardiography).
X-ray methods.
Endoscopic methods (FGDS).
Electrophysiological methods (EEG, ECG).
Methods of laboratory diagnostics (biochemical and immunological analysis blood).
Skin biopsy.

If the diagnostics revealed violations from several major systems, this is a high degree reliability indicates the development of DST. Individuals diagnosed with CTD should be consulted by a geneticist.

Treatment

Both the diagnosis of this disease and its treatment are difficult. To date, no specific therapy for DST has been found. Patients are often registered with doctors of various specializations (traumatologists and gastroenterologists, oculists and cardiologists, neurologists and nephrologists, pulmonologists, hematologists and gynecologists).

If DST is mild, then treatment is not required. In this case, all doctors recommend paying attention to prevention:

Lifestyle change.
Rationalization of loads.
Proper nutrition and ensuring that the body receives the proper amount of nutrients and substances used for the construction of connective tissue.

Only the muscle system is capable of compensating for the insufficiency of ST development. Moreover, almost every muscle of the body should be trained and developed (not only external muscles, but also the myocardium, oculomotor muscles, etc.).

When local changes and the slow development of the pathological process, treatment is recommended using measures that stimulate the compensatory mechanisms of the human body:

Physiotherapy activities.
Reflexology (acupuncture and massage).

Treatment of the disease is syndromic in nature and depends on the prevalence of symptoms.

Together with such therapy, metabolites (Elcarnitine, coenzyme Q10) can be prescribed.

Treatment of children

With an isolated form of the disease, the patient's quality of life usually does not decrease. If connective tissue dysplasia is detected in children, especially in an undifferentiated form, and all measures are taken to prevent the development of the disease, the compensation stage can last until old age. If several major systems are affected, the patient's quality of life deteriorates, the threat of disability and even life increases due to internal bleeding, aneurysm rupture, ischemic attacks etc. In this case, therapy can even be operative.

The syndrome of connective tissue dysplasia, identified in early childhood, should rather be attributed to structural features inherited than to a disease. But TDTS is a significant factor contributing to the development of a particular disease. The presence of SDST requires a certain approach to the organization of the child's lifestyle, his nutrition and leisure. A child with dysplastic syndrome must be adapted (if necessary, with the help of specialists) to the realities of this world. His self-esteem should not be low.

Nevertheless, when choosing a profession, it should be understood that the career of an athlete or sedentary work- is not the best choice. Gutta-percied children (with joint hypermobility syndrome) often become well-known gymnastics athletes at the age of 10, but by the age of 15 they have observed serious illness joints and they require serious treatment.

Causes and risk factors

Currently, among the main causes of CTD, there are changes in the rate of synthesis and assembly of collagen and elastin, the synthesis of immature collagen, a violation of the structure of collagen and elastin fibers due to their insufficient cross-linking.

This indicates that in CTD, connective tissue defects in their manifestations are very diverse.

These morphological disorders are based on hereditary or congenital mutations of genes that directly encode connective tissue structures, enzymes and their cofactors, as well as unfavorable environmental factors.

In recent years, special attention has been drawn to the pathogenetic significance of diselementosis, in particular hypomagnesemia.

In other words, DST is a multilevel process, because it can manifest itself at the gene level, at the level of imbalance of enzymatic and protein metabolism, as well as at the level of homeostasis disturbance of individual macro- and microelements.

A similar violation of tissue formation can occur both during pregnancy and after the birth of a child. To the immediate causes of the development of such changes in the fetus, scientists include a number of genetically determined mutations that affect the formation of fibrils of the extracellular matrix.

The most common mutagenic factors today include:

bad habits;
bad ecological situation;
nutritional errors;
toxicosis of pregnant women;
intoxication;
stress;
magnesium deficiency and more.

The causes of the disease are varied; they can be divided into 2 main groups: hereditary and acquired.

A genetically determined violation of the connective tissue structure occurs due to the inheritance (often by an autosomal dominant type) of mutant genes responsible for encoding the formation and spatial orientation of thin fibrous structures, protein-carbohydrate compounds and enzymes.

Acquired connective tissue dysplasia is formed at the stage prenatal development and is a consequence of the influence of such factors during pregnancy:

viral infections transferred in the first trimester (ARVI, influenza, rubella);
severe toxicosis, gestosis;
chronic infectious diseases of the urogenital area of the expectant mother;
taking certain medications during pregnancy;
unfavorable ecological situation;
industrial hazards;
exposure to ionizing radiation.

The direct cause of the pathology of the connective tissue under consideration is various kinds of effects on the fetus, leading to a genetically determined change in the fibrillogenesis of the extracellular matrix.

Such mutagenic factors include unfavorable environmental conditions, malnutrition and bad habits of the mother, stress, aggravated pregnancy, etc.

Some researchers point to the pathogenetic role of hypomagnesemia in the development of connective tissue dysplasia, based on the detection of magnesium deficiency in the spectral study of hair, blood, and oral fluid.

The synthesis of collagen in the body is encoded by more than 40 genes, for which more than 1300 types of mutations have been described. This causes a variety of clinical manifestations of connective tissue dysplasia and complicates their diagnosis.

Classification of connective tissue dysplasia

Hereditary connective tissue diseases are divided into:

Differentiated dysplasia (DD),
Undifferentiated dysplasia (ND).

Differentiated dysplasia is characterized by a certain type of inheritance that has a pronounced clinical picture, and often also established and well-studied biochemical or gene defects.

Diseases of this type of dysplasia are called collagenopathies, since they are hereditary diseases of collagen.

This group includes:

Marfan syndrome is the most common and widely known of this group. It is to him that the gutta-percha described in fiction corresponds (D. V. Grigorovich “Gutta-percha boy”).
Among other things, this syndrome is characterized by:
- Tall, long limbs, arachnodactyly, scoliosis.
- On the part of the organ of vision, retinal detachment, lens subluxation, blue sclera are noted, and the severity of all changes can vary over a wide range.
Girls and boys get sick equally often. Almost 100% of patients have functional and anatomical changes in the heart and they become patients in cardiology.

The most characteristic manifestation will be mitral valve prolapse, mitral regurgitation, expansion and aortic aneurysm with the possible formation of heart failure.
Flaccid skin syndrome - rare disease connective tissue, in which the skin is easily stretched and forms loose folds. In flaccid skin syndrome, mainly elastic fibers are affected. The disease is usually hereditary; in rare cases and for unknown reasons, it develops in people who do not have precedents in the family.
Eilers-Danlos syndrome is a whole group of hereditary diseases, the main clinical signs which will also be looseness of the joints. Other, very frequent manifestations include skin vulnerability and the formation of wide atrophic scars due to the extensibility of the covers.
Diagnostic signs may be:
- the presence in humans of subcutaneous connective tissue formations;
- pain in mobile joints;
- frequent dislocations and subluxations.
Osteogenesis imperfecta is a group of genetically determined diseases, which are based on a violation of the formation of bone tissue. As a result, bone density is sharply reduced, which leads to frequent fractures, impaired growth and posture, the development of characteristic disabling deformities and related problems, including respiratory, neurological, cardiac, renal disorders, hearing loss, and more.
In some types and subtypes, imperfect dentinogenesis is also noted - a violation of the formation of teeth. In addition, discoloration of the whites of the eyes, the so-called "blue sclera", is often observed.

Connective tissue dysplasia is divided into differentiated and undifferentiated. Differentiated dysplasias include diseases with a certain, established type of inheritance, a clear clinical picture known gene defects and biochemical abnormalities.

The most typical representatives of this group of hereditary connective tissue diseases are Ehlers-Danlos syndrome, Marfan syndrome, osteogenesis imperfecta, mucopolysaccharidoses, systemic elastosis, dysplastic scoliosis, Beals syndrome (congenital contracture arachnodactyly), etc.

The group of undifferentiated connective tissue dysplasias consists of various pathologies whose phenotypic features do not correspond to any of the differentiated diseases.

According to the degree of expression, they are distinguished the following types connective tissue dysplasia: small (in the presence of 3 or more phenotypic signs), isolated (with localization in one organ) and actually hereditary connective tissue diseases. Depending on the prevailing dysplastic stigmas, 10 phenotypic variants of connective tissue dysplasia are distinguished:

Marfan-like appearance (includes 4 or more phenotypic signs of skeletal dysplasia).
Marfan-like phenotype (incomplete set of features of Marfan's syndrome).
MASS phenotype (includes involvement of the aorta, mitral valve, skeleton, and skin).
Primary mitral valve prolapse(characterized by echocardiographic signs mitral prolapse, changes in the skin, skeleton, joints).
Classic Ehlers-like phenotype (incomplete set of features of Ehlers-Danlos syndrome).
Hypermobile Ehlers-like phenotype (characterized by hypermobility of the joints and associated complications - subluxations, dislocations, sprains, flat feet; arthralgias, involvement of bones and skeleton).
Joint hypermobility is benign (includes increased range of motion in the joints without skeletal involvement and arthralgia).
Undifferentiated connective tissue dysplasia (includes 6 or more dysplastic stigmas, which, however, are not enough to diagnose differentiated syndromes).
Increased dysplastic stigmatization with predominant bone-articular and skeletal features.
Increased dysplastic stigmatization with predominant visceral signs (small anomalies of the heart or other internal organs).

Since the description of differentiated forms of connective tissue dysplasia is given in detail in the corresponding independent reviews, in the future we will focus on its undifferentiated variants.

In the case when the localization of connective tissue dysplasia is limited to one organ or system, it is isolated. If connective tissue dysplasia manifests itself phenotypically and involves at least one of the internal organs, this condition is considered as a syndrome of connective tissue dysplasia.

Stages of the disease

Many studies indicate the staging of the onset of symptoms of dysplasia in different age periods:

in the neonatal period, the presence of connective tissue pathology is most often indicated by low weight, insufficient body length, thin and long limbs, feet, hands, fingers;
in early childhood (5-7 years) the disease is manifested by scoliosis, flat feet, excessive range of motion in the joints, keeled or funnel-shaped deformation chest;
in children school age connective tissue dysplasia is manifested by valve prolapse, myopia (nearsightedness), dysplasia of the dentition, the peak of diagnosing the disease falls on this age period.

Signs of connective tissue dysplasia

Despite all the variety of signs of undifferentiated connective tissue dysplasia, they are united by the fact that the main mechanism of development will be a violation of collagen synthesis, followed by the formation of pathology of the musculoskeletal system, organs of vision, and heart muscle.

The following signs are considered the main ones:

joint hypermobility;
high skin elasticity;
skeletal deformities;
malocclusion;
flat foot;
vascular network.

Small signs include, for example, anomalies auricles, teeth, hernia, etc. As a rule, there is no clear heredity, but osteochondrosis, flat feet, scoliosis, arthrosis, pathology of the organ of vision, etc. can be noted in the family history.

External signs are divided into:

skeletal,
skin,
articular,
minor developmental anomalies.

To internal features include dysplastic changes in the nervous system, visual analyzer, cardiovascular system, respiratory system, abdominal cavity.

It is noted that the syndrome of vegetative dystonia (VD) is one of the first to form and is an obligatory component of DST. Symptoms of autonomic dysfunction are observed already at an early age, and in adolescence are noted in 78% of cases of UCTD.

The severity of autonomic dysregulation increases in parallel with the clinical manifestations of dysplasia.

In the formation of vegetative shifts in CTD, both genetic factors underlying the violation of biochemical processes in the connective tissue and the formation of abnormal connective tissue structures are important, which together changes the functional state of the hypothalamus and leads to autonomic imbalance.

The features of CTD include the absence or weak severity of phenotypic signs of dysplasia at birth, even in cases of differentiated forms. In children with a genetically determined condition, markers of dysplasia appear gradually throughout life.

Over the years, especially under unfavorable conditions (environmental conditions, nutrition, frequent intercurrent diseases, stress), the number of dysplastic signs and their severity increase progressively, because the initial changes in homeostasis are exacerbated by these environmental factors.

Symptoms of connective tissue dysplasia

All symptoms can be divided into external manifestations and signs of damage to internal organs (visceral).

External manifestations of connective tissue dysplasia:

low body weight;
tendency to increase the length of tubular bones;
curvature of the spinal column in various departments (scoliosis, hyperkyphosis, hyperlordosis);
asthenic physique;
altered shape of the chest;
deformation of the fingers, violation of the ratio of their length, imposition of toes;
thumb symptoms, wrist joint;
congenital absence of the xiphoid process of the sternum;
deformation lower extremities(X- or O-shaped curvature, flat feet, clubfoot);
pterygoid scapulae;
various changes posture;
hernia and protrusion of the intervertebral discs, instability of the vertebrae in various departments, displacement of the structures of the spinal column relative to each other;
thinning, pallor, dryness and superelasticity of the skin, their increased tendency to traumatization, positive symptoms of a tourniquet, pinching, areas of atrophy may appear;
multiple moles, telangiectasias (spider veins), hypertrichosis, birthmarks, increased fragility of hair, nails, clearly visualized vasculature;
articular syndrome - an excessive range of motion in symmetrical (usually) joints, an increased tendency of the articular apparatus to trauma.

In addition to the above external manifestations, connective tissue dysplasia is characterized by small developmental anomalies, or the so-called stigmata (stigmas) of dysembryogenesis:

External (phenotypic) signs of connective tissue dysplasia are represented by constitutional features, anomalies in the development of bones of the skeleton, skin, etc. Patients with connective tissue dysplasia have an asthenic constitution: tall, narrow shoulders, and underweight. Developmental Disorders axial skeleton can be represented by scoliosis, kyphosis, funnel-shaped or keeled deformities of the chest, juvenile osteochondrosis. Craniocephalic stigmas of connective tissue dysplasia often include dolichocephaly, malocclusion, dental anomalies, gothic palate, and nonunion of the upper lip and palate. Pathology of the osteoarticular system is characterized by O-shaped or X-shaped deformity of the limbs, syndactyly, arachnodactyly, joint hypermobility, flat feet, a tendency to habitual dislocations and subluxations, and bone fractures.

Diagnosis of pathology

Accurate diagnosis requires careful examination and collection of analysis, especially information about hereditary diseases.

The manifestations of dysplasia syndrome are so diverse that it can be very difficult to establish a timely and correct diagnosis. To do this, it is necessary to conduct a number of laboratory diagnostic studies, ultrasound echography (ultrasound), magnetic resonance imaging (MRI) and computed tomography (CT), conduct a study of the electrical activity of muscles (electromyography), X-ray examination of bones, etc.

The basis for the correct diagnosis of connective tissue dysplasia is a thorough collection of anamnestic data, a comprehensive examination of the patient:

detection in blood and urine tests of hydroxyproline and glycosaminoglycans;
immunological analysis for the determination of C- and N-terminal telopeptides in blood and urine;
indirect immunofluorescence with polyclonal antibodies to fibronectin, various collagen fractions;
determination of the activity of the bone isoform of alkaline phosphatase and osteocalcin in blood serum (assessment of the intensity of osteogenesis);
study of HLA histocompatibility antigens;
Ultrasound of the heart, vessels of the neck and abdominal organs;
bronchoscopy;
FGDS.

Treatment

Modern medicine uses many different methods of treating dysplasia syndrome, depending on its manifestations, but all of them, as a rule, come down to symptomatic medical or surgical treatment. The most difficult to treat is undifferentiated connective tissue dysplasia, due to ambiguous clinical symptoms and the lack of clear diagnostic criteria.

Drug treatment includes the use of magnesium preparations, cardiotrophic, antiarrhythmic, vegetotropic, nootropic, vasoactive drugs, beta-blockers.

Drug treatment is substitutional in nature. The purpose of the use of drugs in this situation is to stimulate the synthesis of your own collagen.

For this, glucosamine and chondroitin sulfate are used. To improve the absorption of phosphorus and calcium, necessary for bones and joints, appoint active forms vitamin D.

Treatment requires an integrated approach, including:

Drug methods based on the use of drugs that stimulate collagen formation. These drugs include: ascorbic acid, chondroitin sulfate (a drug of mucopolysaccharide nature), vitamins and trace elements.
Non-drug methods, which include the help of a psychologist, individualization of the daily regimen, physiotherapy exercises, massage, physiotherapy, acupuncture, balneotherapy, and diet therapy.

The main attention in the treatment of dysplasia syndrome with kinesitherapy is given to strengthening, maintaining muscle tone and bone balance muscular system, preventing the development of irreversible changes, restoring the normal function of internal organs and the musculoskeletal system, improving the quality of life.

Treatment of connective tissue dysplasia in children is implemented, as a rule, conservative method. With the help of B vitamins and ascorbic acid, collagen synthesis can be stimulated, which will slow down the development of the disease.

Daily regime: night sleep should be at least 8-9 hours, some children are shown and daytime sleep. You need to do morning exercises every day.

If there are no restrictions on playing sports, then you need to do it all your life, but in no case professional sports. In children with hypermobility of the joints involved in professional sports, degenerative-dystrophic changes in cartilage and ligaments develop very early.

This is due to constant traumatization, microoutflows, which lead to chronic aseptic inflammation and dystrophic processes.

A good effect is given by therapeutic swimming, skiing, cycling, walking up hills and stairs, badminton, wushu gymnastics. Effective dosed walking. Regular exercise increases the adaptive capacity of the body.

Quite often, the manifestations of the disease are slightly expressed, are rather cosmetic in nature and do not require special medical correction.

In this case, an adequate, dosed regimen of physical activity, compliance with the regimen of activity and rest, a full-fledged fortified, protein-rich diet are shown.

If necessary, drug correction (stimulation of collagen synthesis, bioenergetics of organs and tissues, normalization of the level of glycosaminoglycans and mineral metabolism), drugs of the following groups are prescribed:

vitamin and mineral complexes;
chondroprotectors;
mineral metabolism stabilizers;
amino acid preparations;
metabolic agents.

There is no specific treatment for connective tissue dysplasia. Patients are advised to follow rational regime day and nutrition, health-improving physical activity. In order to activate compensatory-adaptive capabilities, courses of exercise therapy, massage, balneotherapy, physiotherapy, acupuncture, and osteopathy are prescribed.

In complex medical measures, along with syndromic drug therapy, metabolic drugs (L-carnitine, coenzyme Q10), calcium and magnesium preparations, chondroprotectors, vitamin-mineral complexes, antioxidant and immunomodulatory agents, herbal medicine, psychotherapy are used.

The prognosis of connective tissue dysplasia largely depends on the severity of dysplastic disorders. In patients with isolated forms, quality of life may not be affected.

Patients with a multisystemic lesion have an increased risk of early and severe disability, premature death, the causes of which can be ventricular fibrillation, pulmonary embolism, aortic aneurysm rupture, hemorrhagic stroke, severe internal bleeding, etc.

Possible complications and consequences

Complications of connective tissue dysplasia:

traumatization;
a decrease in the quality of life with a high involvement of organs, a systemic lesion;
addition of somatic pathology.

megan92 () 2 weeks ago

Tell me, who is struggling with pain in the joints? My knees hurt terribly ((I drink painkillers, but I understand that I am struggling with the effect, and not with the cause ...

Daria () 2 weeks ago

I struggled with my sore joints for several years until I read this article by some Chinese doctor. And for a long time I forgot about the "incurable" joints. So it goes

megan92 () 13 days ago

Daria () 12 days ago

megan92, so I wrote in my first comment) I will duplicate it just in case - link to professor's article.

Sonya 10 days ago

Isn't this a divorce? Why sell online?

Yulek26 (Tver) 10 days ago

Sonya, what country do you live in? .. They sell on the Internet, because shops and pharmacies set their margins brutal. In addition, payment is only after receipt, that is, they first looked, checked and only then paid. And now everything is sold on the Internet - from clothes to TVs and furniture.

Editorial response 10 days ago

Sonya, hello. This drug for the treatment of joints is really not sold through the pharmacy network in order to avoid inflated prices. Currently, you can only order Official site. Be healthy!

Sonya 10 days ago

Sorry, I didn't notice at first the information about the cash on delivery. Then everything is in order for sure, if the payment is upon receipt. Thanks!!

Margo (Ulyanovsk) 8 days ago

Has anyone tried traditional methods of treating joints? Grandmother does not trust pills, the poor woman suffers from pain ...

Andrew a week ago

What only folk remedies I didn't try, nothing helped...

Ekaterina a week ago

I tried to drink a decoction of bay leaves, to no avail, only ruined my stomach !! I no longer believe in these folk methods ...

Maria 5 days ago

Recently I watched a program on the first channel, there is also about this Federal program for the fight against diseases of the joints spoke. It is also headed by some well-known Chinese professor. They say that they have found a way to permanently cure the joints and back, and the state fully finances the treatment for each patient.

Connective tissue dysplasia is a violation of the formation and development of connective tissue, observed both at the stage of embryonic growth and in people after their birth. In general, the term dysplasia refers to any violation of the formation of tissues or organs, which can occur both in utero and postnatally. Pathologies occur due to genetic factors, affect both the fibrous structures and the main substance that makes up the connective tissue.

Sometimes you can find such names as connective tissue dysplasia, congenital connective tissue insufficiency, hereditary collagenopathy, hypermobility syndrome. All these definitions are synonymous with the main name of the disease.

Genetic mutations occur anywhere, as connective tissue is distributed throughout the body. The chains of elastane and collagen, of which it consists, under the influence of improperly functioning, mutated genes, are formed with disturbances and are unable to withstand the mechanical loads placed on them.

This genetic pathology is classified as follows:

Dysplasia is differentiated. It is caused by a hereditary factor of a certain type, it is clinically pronounced. Gene defects and biochemical processes are well understood. All diseases associated with differentiated dysplasia are called collagenopathies. This name is due to the fact that the pathology is characterized by violations of the formation of collagen. This group includes such diseases as: flaccid skin syndrome, Marfan's syndrome and Ehlers-Danlos syndromes (all 10 types).

Dysplasia is undifferentiated. A similar diagnosis is made when the signs of a disease that has affected a person cannot be attributed to a differentiated pathology. This type of dysplasia is the most common. The disease affects both children and young people.

It is worth noting that people with this kind of dysplasia are not considered sick. They just have the potential to be prone to a lot of pathologies. This causes them to be constantly under medical supervision.

The pathology manifests itself with many symptoms. Their severity can be mild or severe.

The disease manifests itself in each patient individually, however, it was possible to combine the symptoms of impaired connective tissue formation into several large groups syndromes:

neurological disorders. They occur very often, in almost 80% of patients. Expressed autonomic dysfunction in panic attacks, palpitations, dizziness, increased sweating, fainting and other manifestations.

Asthenic syndrome, which is characterized by low performance, fatigue, severe psycho-emotional disorders, inability to endure increased physical activity.

Violations in the activity of the heart valves or valvular syndrome. It is expressed in myxomatous valve degeneration (a progressive condition that changes the anatomy of the valve leaflets and reduces their performance) and in prolapse of the heart valves.

Thoracodiaphragmatic syndrome, which is expressed in violations of the structure of the chest, leading to its funnel-shaped or keeled deformation. Sometimes there is a deformation of the spinal column, expressed in scoliosis, hyperkyphosis, kyphoscoliosis.

The disease also affects the blood vessels. This is expressed in varicose veins, in muscular damage to arteries, in the appearance of spider veins, in damage to the inner layer of vascular cells (endothelial dysfunction).

Sudden death syndrome, which is caused by abnormalities in the functioning of the valves and blood vessels of the heart.

Low body weight.

Increased joint mobility. For example, a patient suffering from dysplasia may bend the little finger in reverse side 90 degrees, or re-extension the elbows and knees at the joints.

Valgus deformity of the lower extremities, when the legs, due to changes, have the shape of the letter X.

Disorders of the gastrointestinal tract, expressed in constipation, abdominal pain or bloating, decreased appetite.

Frequent diseases of the ENT organs. Pneumonia and bronchitis become constant companions of people with a similar genetic anomaly.

Muscle weakness.

The skin is transparent, dry and sluggish, it is pulled back painlessly, sometimes it can form an unnatural fold on the ears or the tip of the nose.

Patients suffer from flat feet, both transverse and longitudinal.

The upper and lower jaws grow slowly and do not correspond in size to the general proportions of a person.

Immunological disorders, allergic reactions.

Dislocations and subluxations of joints.

Myopia, retinal angiopathy, astigmatism, lens subluxation, strabismus and retinal detachment.

Neurotic disorders, expressed in depression, phobias and anorexia nervosa.

Psychological problems of patients suffering from connective tissue dysplasia

Patients with an established diagnosis belong to the group of psychological risk. They underestimate their own capabilities low level claims.

Increased anxiety and depression causes high vulnerability of patients. Cosmetic defects in appearance make such people insecure, dissatisfied with life, uninitiative, reproaching themselves for every little thing. Often, patients have suicidal tendencies.

Against the background of these manifestations, patients with dysplasia have a significantly reduced standard of living, social adaptation difficult. Sometimes there is autism.

Causes

At the base of the emergence pathological processes certain gene mutations. This disease can be inherited.

Some scientists are also of the opinion that this type of dysplasia may be caused by magnesium deficiency in the body.

Diagnostics

Because illness is the result genetic mutations, then clinical and genealogical research is required for its diagnosis.

But in addition to this, doctors use the following methods to clarify the diagnosis:

Analysis of patient complaints. In most cases, patients indicate problems with the cardiovascular system. Mitral valve prolapse is often found, less often aortic aneurysm. Also, patients suffer from abdominal pain, bloating, dysbacteriosis. There are deviations in the respiratory system, which is due to the weak walls of the bronchi and alveoli. Naturally, one cannot ignore cosmetic defects, as well as disorders in the work of the joints.

Taking an anamnesis, which consists in studying the history of the disease. People suffering from a similar genetic disease are frequent "guests" of cardiologists, orthopedists, ENT doctors, gastroenterologists.

It is necessary to measure the length of all segments of the body.

The so-called “wrist test” is also used, when the patient can completely grasp it with the thumb or little finger.

Joint mobility is assessed using the Beighton criteria. As a rule, patients have their hypermobility.

Taking a daily urine sample in which hydroxyproline and glycosaminoglycans are determined as a result of collagen breakdown.

In general, the diagnosis of the disease is not difficult, and for an experienced doctor, one glance at the patient is enough to understand what his problem is.

It should be understood that this pathology of the connective tissue is not treatable, but using an integrated approach to the treatment of the disease, it is possible to slow down the process of its development and greatly facilitate a person's life.

The main methods of treatment and prevention are as follows:

Selection of specialized sports complexes, physiotherapy.

Compliance with the correct diet.

Taking medication to improve metabolism and stimulate collagen production.

Surgical intervention aimed at correcting the chest and musculoskeletal system.

Therapy without drugs

First of all, it is necessary to provide the patient with psychological support, set him up to resist the disease. It is worth giving him clear recommendations on observing the correct daily routine, determining medical and physical education complexes and the minimum required load. Patients are required to undergo exercise therapy systematically up to several courses per year. Useful, but only in the absence of hypermobility of the joints, stretching, hanging - according to the strict recommendations of the doctor, as well as swimming, playing a variety of sports that are not included in the list of contraindications.

So, non-drug treatment includes:

Therapeutic massage courses.

Performing a set of individually selected exercises.

Sports.

Physiotherapy: wearing a collar, UVI, salt baths, rubdowns and douches.

Psychotherapy with a visit to a psychologist and a psychiatrist, depending on the severity of the patient's psycho-emotional state.

Diet for connective tissue dysplasia

The diet for people with dysplasia is different from regular diets. Patients need to eat a lot, since collagen tends to instantly disintegrate. The diet must include fish and all seafood (in the absence of allergies), meat, legumes.

You can and should eat rich meat broths, vegetables and fruits. Be sure to include hard cheeses in the diet of the patient. On the recommendation of a doctor, active biological supplements belonging to the Omega class should be used.

Taking medication

The drugs are taken in courses, depending on the patient's condition, from 1 to 3 times a year. One course lasts approximately 6 to 8 weeks. All drugs must be taken under the strict supervision of a physician, with monitoring of vital signs. It is advisable to change the preparations in order to select the optimal means.

Used to stimulate collagen production synthetic vitamins group B, Ascorbic acid, Copper sulfate 1%, Magnesium citrate and other complexes.

For the catabolism of glycosaminoglycans, Chondrotin sulfate, Chondroxide, Rumalon are prescribed.

To stabilize mineral metabolism, Osteogenon, Alfacalcidol, Calcium Upsavit and other agents are used.

To normalize the level of free amino acids in the blood, Glycine, Potassium orotate, Glutamic acid are prescribed.

To normalize the bioenergetic state, Riboxin, Mildronate, Limontar, Lecithin, etc. are prescribed.

Surgical intervention

Indications for surgical intervention are valve prolapse, pronounced vascular pathologies. Also, surgery is necessary for obvious deformities of the chest or spinal column. If it poses a threat to the life of the patient or significantly impairs the quality of his life.

Contraindications

People suffering from this pathology are contraindicated:

Psychological overload and stress.

Difficult working conditions. Professions associated with constant vibration, radiation and high temperatures.

All types of contact sports, weightlifting and isometric training.

If there is hypermobility of the joints, hanging and any stretching of the spine are prohibited.

Living in hot climates.

It is worth noting that if you approach the treatment and prevention of a genetic anomaly in a comprehensive manner, then the result will certainly be positive. In therapy, it is important not only the physical and medical management of the patient, but also the establishment of psychological contact with him. A huge role in the process of curbing the progression of the disease is played by the patient's willingness to strive, albeit not completely, but to recover and improve the quality of his own life.

Connective tissue dysplasia is a group of clinically polymorphic pathological conditions caused by hereditary or congenital defects in collagen synthesis and accompanied by impaired functioning of internal organs and the musculoskeletal system. Most often, connective tissue dysplasia is manifested by a change in body proportions, bone deformities, joint hypermobility, habitual dislocations, hyperelastic skin, valvular defects heart, vascular fragility, muscle weakness. Diagnosis is based on phenotypic features, biochemical parameters, biopsy data. Treatment of connective tissue dysplasia includes exercise therapy, massage, diet, drug therapy.

Connective tissue dysplasia is a concept that combines various diseases caused by hereditary generalized collagenopathy and manifested by a decrease in the strength of the connective tissue of all body systems. The population frequency of connective tissue dysplasia is 7-8%, however, it is assumed that some of its signs and small undifferentiated forms can occur in 60-70% of the population. Connective tissue dysplasia comes to the attention of clinicians working in various medical fields - pediatrics, traumatology and orthopedics, rheumatology, cardiology, ophthalmology, gastroenterology, immunology, pulmonology, urology, etc.

Causes of connective tissue dysplasia

The development of connective tissue dysplasia is based on a defect in the synthesis or structure of collagen, protein-carbohydrate complexes, structural proteins, as well as essential enzymes and cofactors. The direct cause of the pathology of the connective tissue under consideration is various kinds of effects on the fetus, leading to a genetically determined change in the fibrillogenesis of the extracellular matrix. Such mutagenic factors include unfavorable environmental conditions, malnutrition and bad habits of the mother, stress, aggravated pregnancy, etc. Some researchers point to the pathogenetic role of hypomagnesemia in the development of connective tissue dysplasia, based on the detection of magnesium deficiency in the spectral study of hair, blood, oral fluid .

The synthesis of collagen in the body is encoded by more than 40 genes, for which more than 1300 types of mutations have been described. This causes a variety of clinical manifestations of connective tissue dysplasia and complicates their diagnosis.

Classification of connective tissue dysplasia

Connective tissue dysplasia is divided into differentiated and undifferentiated. Differentiated dysplasias include diseases with a defined, established pattern of inheritance, a clear clinical picture, known gene defects, and biochemical abnormalities. The most typical representatives of this group of hereditary connective tissue diseases are the Ehlers-Danlos syndrome, Marfan syndrome, osteogenesis imperfecta, mucopolysaccharidoses, systemic elastosis, dysplastic scoliosis, Beals syndrome (congenital contracture arachnodactyly), etc. The group of undifferentiated connective tissue dysplasias consists of various pathologies whose phenotypic features do not correspond to any of the differentiated diseases.

According to the degree of severity, the following types of connective tissue dysplasia are distinguished: small (in the presence of 3 or more phenotypic signs), isolated (with localization in one organ) and actually hereditary diseases of the connective tissue. Depending on the prevailing dysplastic stigmas, 10 phenotypic variants of connective tissue dysplasia are distinguished:

Marfan-like appearance (includes 4 or more phenotypic signs of skeletal dysplasia).
Marfan-like phenotype (incomplete set of features of Marfan's syndrome).
MASS phenotype (includes involvement of the aorta, mitral valve, skeleton, and skin).
Primary mitral valve prolapse (characterized by echocardiographic signs of mitral prolapse, changes in the skin, skeleton, joints).
Classic Ehlers-like phenotype (incomplete set of features of Ehlers-Danlos syndrome).
Hypermobility Ehlers-like phenotype (characterized by hypermobility of the joints and associated complications - subluxations, dislocations, sprains, flat feet; arthralgias, involvement of bones and skeleton).
Joint hypermobility is benign (includes increased range of motion in the joints without skeletal involvement and arthralgia).
Undifferentiated connective tissue dysplasia (includes 6 or more dysplastic stigmas, which, however, are not enough to diagnose differentiated syndromes).
Increased dysplastic stigmatization with predominant bone-articular and skeletal features.
Increased dysplastic stigmatization with predominant visceral signs (small anomalies of the heart or other internal organs).

Since the description of differentiated forms of connective tissue dysplasia is given in detail in the corresponding independent reviews, in the future we will focus on its undifferentiated variants. In the case when the localization of connective tissue dysplasia is limited to one organ or system, it is isolated. If connective tissue dysplasia manifests itself phenotypically and involves at least one of the internal organs, this condition is considered as a syndrome of connective tissue dysplasia.

Symptoms of connective tissue dysplasia

External (phenotypic) signs of connective tissue dysplasia are represented by constitutional features, anomalies in the development of bones of the skeleton, skin, etc. Patients with connective tissue dysplasia have an asthenic constitution: tall, narrow shoulders, and underweight. Disturbances in the development of the axial skeleton can be represented by scoliosis, kyphosis, funnel-shaped or keeled deformities of the chest, juvenile osteochondrosis. Craniocephalic stigmas of connective tissue dysplasia often include dolichocephaly, malocclusion, dental anomalies, gothic palate, and nonunion of the upper lip and palate. Pathology of the osteoarticular system is characterized by O-shaped or X-shaped deformity of the limbs, syndactyly, arachnodactyly, joint hypermobility, flat feet, a tendency to habitual dislocations and subluxations, and bone fractures.

On the part of the skin, there is increased extensibility (hyperelasticity) or, on the contrary, fragility and dryness of the skin. Often, striae appear on it for no apparent reason, dark spots or foci of depigmentation, vascular defects (telangiectasia, hemangiomas). The weakness of the muscular system in connective tissue dysplasia causes a tendency to prolapse and prolapse of internal organs, hernias, and muscular torticollis. Other external signs of connective tissue dysplasia may include microanomalies such as hypo- or hypertelorism, protruding ears, ear asymmetry, low hairline on the forehead and neck, etc.

Visceral lesions occur with the interest of the central nervous system and the autonomic nervous system, various internal organs. Neurological disorders associated with connective tissue dysplasia are characterized by vegetative-vascular dystonia, asthenia, enuresis, chronic migraine, speech impairment, high anxiety and emotional instability. The syndrome of connective tissue dysplasia of the heart may include mitral valve prolapse, open foramen ovale, hypoplasia of the aorta and pulmonary trunk, elongation and excessive mobility of the chordae, aneurysms of the coronary arteries or the interatrial septum. The consequence of the weakness of the walls of the venous vessels is the development of varicose veins of the lower extremities and pelvis, hemorrhoids, varicocele. Patients with connective tissue dysplasia tend to develop arterial hypotension, arrhythmias, atrioventricular and intraventricular blockades, cardialgia, sudden death.

Cardiac manifestations are often accompanied by bronchopulmonary syndrome, characterized by the presence of cystic hypoplasia of the lungs, bronchiectasis, bullous emphysema, repeated spontaneous pneumothorax. Gastrointestinal tract lesions are characteristic in the form of prolapse of internal organs, esophageal diverticula, gastroesophageal reflux, hernia. esophageal opening diaphragm. Typical manifestations of the pathology of the organ of vision in connective tissue dysplasia are myopia, astigmatism, hyperopia, nystagmus, strabismus, dislocation and subluxation of the lens.

On the part of the urinary system, nephroptosis, urinary incontinence, renal anomalies (hypoplasia, doubling, horseshoe-shaped kidney), etc. can be noted. postpartum hemorrhage; in men, cryptorchidism is possible. Persons with signs of connective tissue dysplasia are prone to frequent acute respiratory viral infections, allergic reactions, and hemorrhagic syndrome.

Diagnosis of connective tissue dysplasia

Diseases from the group of connective tissue dysplasia are not always diagnosed correctly and in a timely manner. Often, patients with certain signs of dysplasia are observed by doctors of various specialties: traumatologists, neurologists, cardiologists, pulmonologists, nephrologists, gastroenterologists, ophthalmologists, etc. Recognition of undifferentiated forms of connective tissue dysplasia is complicated by the lack of unified diagnostic algorithms. The identification of a combination of phenotypic and visceral signs has the greatest diagnostic significance. In order to detect the latter, ultrasonic (EchoCG, ultrasound of the kidneys, ultrasound of the abdominal organs), endoscopic (FGDS), electrophysiological (ECG, EEG), radiological (radiography of the lungs, joints, spine, etc.) methods are widely used. Identification of characteristic multiple organ disorders, mainly from the musculoskeletal, nervous and cardiovascular systems, with a high degree of probability indicates the presence of connective tissue dysplasia.

In addition, biochemical blood parameters, the hemostasis system, immune status are examined, and a skin biopsy is performed. As a method of screening diagnostics of connective tissue dysplasia, it is proposed to study the papillary pattern of the skin of the anterior abdominal wall: the identification of an unformed type of papillary pattern serves as a marker of dysplastic disorders. Families with cases of connective tissue dysplasia are advised to undergo medical genetic counseling.

Treatment and prognosis of connective tissue dysplasia

There is no specific treatment for connective tissue dysplasia. Patients are advised to adhere to a rational regimen of the day and nutrition, health-improving physical activity. In order to activate compensatory-adaptive capabilities, courses of exercise therapy, massage, balneotherapy, physiotherapy, acupuncture, and osteopathy are prescribed.

In the complex of therapeutic measures, along with syndromic drug therapy, metabolic preparations (L-carnitine, coenzyme Q10), calcium and magnesium preparations, chondroprotectors, vitamin-mineral complexes, antioxidant and immunomodulating agents, herbal medicine, psychotherapy are used.

The prognosis of connective tissue dysplasia largely depends on the severity of dysplastic disorders. In patients with isolated forms, quality of life may not be affected. Patients with a multisystemic lesion have an increased risk of early and severe disability, premature death, the causes of which can be ventricular fibrillation, pulmonary embolism, aortic aneurysm rupture, hemorrhagic stroke, severe internal bleeding, etc.

krasotaimedicina.ru

Connective tissue dysplasia - symptoms, treatment

5.1.6 Drug therapy

Probably, many have read a short story by D. Grigorovich "The Gutta-Percha Boy" or watched the film of the same name. The tragic story of a little circus performer, described in the work, not only reflected the trends of those times. The writer, perhaps without realizing it, gave literary description painful complex, studied by domestic scientists, including T.I. Kadurina.

Not all readers thought about the origin of these unusual qualities in young hero and people like him.

Nevertheless, the combination of symptoms, the leading of which is hyperflexibility, reflects the inferiority of the connective tissue.

Where does the amazing talent come from and at the same time the problem associated with the development and formation of the child. Unfortunately, not everything is so clear and simple.

What is dysplasia?

The concept itself is translated from Latin as “developmental disorder”. Here we are talking about a violation of the development of the structural components of the connective tissue, leading to multiple changes. First of all, to the symptoms of the musculoskeletal system, where the connective tissue elements are most widely represented.

An important role in the study of connective tissue dysplasia in the post-Soviet space was played by Tamara Kadurina, the author of a monumental and, in fact, the only guide to the problem of its inferiority.

The etiology of connective tissue dysplasia (CTD) of the disease is based on a violation of the synthesis of collagen protein, which acts as a kind of skeleton or matrix for the formation of more highly organized elements. Synthesis of collagen is carried out in the basic connective tissue structures, with each subspecies producing its own type of collagen.

What are connective tissue structures?

It should be mentioned that the connective tissue is the most represented histological structure of our body. Its diverse elements form the basis of cartilage, bone tissue, cells and fibers act as a framework in muscles, blood vessels and the nervous system.

Even blood, lymph, subcutaneous fat, the iris and sclera are all connective tissue originating from an embryonic base called mesenchyme.

It is easy to assume that the violation of the formation of cells - the ancestors of all these seemingly different structures during the period of intrauterine development, will subsequently have clinical manifestations on the part of all systems and organs.

The appearance of specific changes can occur at different periods of the life of the human body.

Classification

The difficulties of diagnosis lie in the variety of clinical manifestations, which are often recorded by narrow specialists in the form of separate diagnoses. The very concept of CTD is not a disease as such in the ICD. Rather, it is a group of conditions caused by a violation of the intrauterine formation of tissue elements.

Until now, there have been repeated attempts to generalize the pathology of the joints, accompanied by multiple clinical signs from other systems.

An attempt to present connective tissue dysplasia as a series of congenital diseases with similar features and a number of common features was made by T.I. Kadurina in 2000

Kadurina's classification divides the connective tissue dysplasia syndrome into phenotypes (that is, according to external signs). This includes:

MASS-phenotype (from English - mitral valve, aorta, skeleton, skin);
marfanoid;

Kadurina's creation of this division is dictated by a large number conditions that do not fit into the diagnoses corresponding to ICD 10.

Syndromic connective tissue dysplasia

Here, by right, we can include the classic syndromes of Marfan and Ehlers-Danlos, which have their place in the ICD.

Marfan syndrome

The most common and widely known of this group is Marfan's syndrome. This is not only a problem for orthopedists. The peculiarities of the clinic often force the child's parents to turn to cardiology. It is to him that the described gutta-perchiness corresponds. Among other things, it is characterized by:

Tall, long limbs, arachnodactyly, scoliosis.
On the part of the organ of vision, retinal detachment, lens subluxation, blue sclera are noted, and the severity of all changes can vary over a wide range.

Girls and boys get sick equally often. Almost 100% of patients have functional and anatomical changes in the heart and they become patients in cardiology.

The most characteristic manifestation will be mitral valve prolapse, mitral regurgitation, aortic dilatation and aneurysm with the possible formation of heart failure.

Eilers-Danlos Syndrome

This is a whole group of hereditary diseases, the main clinical signs of which will also be looseness of the joints. Other, very frequent manifestations include skin vulnerability and the formation of wide atrophic scars due to the extensibility of the covers. Diagnostic signs may be:

the presence in humans of subcutaneous connective tissue formations;
pain in mobile joints;
frequent dislocations and subluxations.

Since this is a whole group of diseases that can be inherited, in addition to objective data, the doctor needs to clarify the family history to find out if there were similar cases in the pedigree. Depending on the prevailing and accompanying features, the classic type is distinguished:

hypermobile type;
vascular type;
kyphoscoliotic type and a number of others.

Accordingly, in addition to damage to the articular-motor apparatus, there will be phenomena of vascular weakness in the form of aneurysm ruptures, bruising, progressive scoliosis, and the formation of umbilical hernias.

Connective tissue dysplasia of the heart

The main objective clinical manifestation for diagnosing the syndrome of connective tissue dysplasia of the heart is the prolapse (protrusion) of the mitral valve into the ventricular cavity, accompanied by a special systolic murmur during auscultation. Also, in a third of cases, prolapse is accompanied by:

signs of articular hypermobility;
skin manifestations in the form of vulnerability and extensibility on the back and buttocks;
from the side of the eyes are usually present in the form of astigmatism and myopia.

The diagnosis is confirmed by conventional echocardioscopy and analysis of the totality of non-cardiac symptoms. Such children are treated in cardiology.

Other connective tissue dysplasias

It is worth dwelling separately on such a broad concept as the syndrome of undifferentiated connective tissue dysplasia (NDCT)

Here emerges a general set of clinical manifestations that do not fit into any of the described syndromes. External manifestations come to the fore, allowing to suspect the presence similar problems. It looks like a set of signs of connective tissue damage, of which about 100 are described in the literature.

Careful examination and collection of analysis, especially information about hereditary diseases, are necessary for an accurate diagnosis.

Despite all the variety of these signs, they are united by the fact that the main mechanism of development will be a violation of collagen synthesis, followed by the formation of pathology of the musculoskeletal system, organs of vision, and the heart muscle. In total, more than 10 signs are described, some of them are considered the main ones:

Connective tissue dysplasia | tvoylechebnik.ru

Connective tissue dysplasia

Connective tissue dysplasia (CTD) is systemic disease, at which occurs misdevelopment connective tissue in the body, which leads to various disorders in the body. Connective tissue is found in tendons, cartilage, ligaments, muscles, skin, and blood vessels. Violation of its development begins during embryonic development, i.e. before birth, but the symptoms of the disease appear in children and adolescents, and not in infancy. With age, the symptoms become more pronounced. CTD is caused by mutations in the genes responsible for the production of collagen or other proteins. In rare cases, the cause of dysplasia can be a severe pregnancy and illness of a pregnant woman.

Since connective tissue is present in many organs of the human body, the symptoms can be varied and numerous. In addition, the symptoms of the disease have varying degrees of severity and are individual for each patient. Possible disorders in the body:

Excessive joint flexibility, frequent dislocations, flat feet or clubfoot. Scoliosis, hyperkyphosis or hyperlordosis, irregular shape of the chest, osteochondrosis, herniated discs, spondylolisthesis, osteoarthritis.
Problems with the heart and blood vessels. Cor pulmonale, various types of arrhythmias, heart valve prolapse, low blood pressure, vascular aneurysms, varicose veins, spider veins, hemorrhoids.
Neurological disorders such as panic attacks, fast fatiguability, asthenia, low working capacity, depression, anorexia nervosa, hypochondria.
Visual disturbances: astigmatism, myopia, nystagmus, strabismus, retinal detachment, dislocation of the lens, retinal angiopathy.
Damage to other organs and systems of the body: problems with the lungs and bronchi, (bronchitis, pneumonia), spontaneous pneumothorax, excessive mobility of the kidneys (nephroptosis) and other internal organs, gastroesophageal reflux disease, hiatal hernia.

Also possible malocclusion, asymmetrical facial features, thin and easily extensible skin, low body weight, elongated limbs.

Treatment of connective tissue dysplasia

A combination of several of the above symptoms is important for the diagnosis of dysplasia. In addition, an EKG may be performed. duplex scanning vessels, pressure measurement. If relatives had similar diseases (for example, vascular or heart problems, joint hypermobility, vision problems), this also speaks in favor of the diagnosis of CTD.

Treatment of CTD is complex and consists not only of drug therapy, but also diet and physiotherapy. Non-drug therapy also includes psychotherapy, exercise therapy and the correct daily routine.

Drug therapy includes taking drugs that stimulate the formation of collagen, stabilize mineral metabolism and correct the synthesis of glycosaminoglycans. To stimulate the formation of collagen, vitamins (vitamin B1, B2, B6, C, P, E) and substances such as zinc oxide, zinc sulfate, copper sulfate, magnesium citrate, calcitrinin, carnitine chloride, solcoseryl are prescribed. Alfacalcidol, osteogenon, ergocalciferol, oksidevit allow to stabilize the metabolism of minerals. For the synthesis of glycosaminoglycans, chondrokid, rumalon, structum, chondroitin sulfate are prescribed.

It is also required to adjust the level of amino acids in the blood, for this, drugs such as glycine, methionine, glutamic acid, retabolil are used.

Drug therapy is carried out in courses of 2 months several times a year (1-3 times) with breaks of 2-3 months. Treatment should be carried out under the supervision of a physician, since, depending on the condition, the prescribed drugs can be adjusted. In case of heart problems, an ECG and ECHOCG should be done annually.

Between courses of drug treatment, physiotherapy is recommended. An important point in the treatment of dysplasia is regular exercise therapy. A set of exercises should be selected by an exercise therapy doctor. Moderate physical activity (walking, skiing, swimming, badminton) is also useful, but in no case professional sports and non-professional dancing. They can only aggravate the condition, because they give an excessive load. Power loads are also prohibited - barbell, boxing, lifting weights of more than 3 kg, long hikes. Avoid injuries and infectious diseases, as they can be more severe with dysplasia. With flat feet, you need to go to the orthopedist and pick up special insoles. If hypermobility of the joints is accompanied by pain in the joints, then orthoses (bandages, knee pads, elbow pads) should be worn.

Other recommended procedures are massage courses of the neck-collar region of 15-20 sessions, UV radiation, balneotherapy, coniferous baths. It will not be superfluous to visit a psychotherapist, because of the peculiarities of the emotional state of patients with CTD. It is important to observe the correct daily routine, sleep at least 8 hours, take a shower in the morning and do gymnastics.

The diet for dysplasia includes the use of foods containing a large amount of protein (fish, meat, seafood, nuts, beans, soy) and magnesium. Useful jellied dishes and aspics, broths, hard cheeses. You can use special dietary supplements, amino acid complexes. Magnesium is necessary for the normal structure of connective tissue. An examination by a gastroenterologist is recommended. tr is more pronounced in children, and becomes apparent in children and adolescents in motor axes. chemicals

Patients with dysplasia should choose a job that does not involve emotional stress and physical overload, interaction with chemicals. In cases of spontaneous pneumothorax, it is forbidden to fly an airplane, dive and use the subway, as this can cause repeated cases of pneumothorax. Not recommended for hot climates.

In recent years, there has been an increase in the number birth defects development and hereditary diseases, as well as an increase in the prevalence of various types of connective tissue dysplasia due to deterioration environmental situation. According to modern concepts, the syndrome of connective tissue dysplasia is defined as an independent syndrome of a polygenic multifactorial nature, manifested by external phenotypic signs in combination with dysplastic changes in the connective tissue and clinically significant dysfunction of one or more internal organs (V. A. Gavrilova, 2002).

The term "dysplasia of the connective tissue of the heart" (DHTS) means an anomaly of the tissue structure, which is based on a genetically determined defect in collagen synthesis. DSTS syndrome was singled out as an independent nosological form at a symposium in Omsk (1990) dedicated to the problem of congenital connective tissue dysplasia. The problem of DSTS syndrome attracts attention due to the high risk of developing complications such as rhythm and conduction disturbances, infective endocarditis, thromboembolism of various vessels, and sudden cardiac death.

The high frequency of DSTS syndrome in various diseases indicates a systemic lesion, which is associated with the "omnipresence" of the connective tissue that makes up the stroma of all organs and tissues.

Dysplastic heart is a combination of constitutional, topographic, anatomical and functional features of the heart in a person with connective tissue dysplasia (CTD). In Western literature, the term "myxoid heart disease" is used (Morales A. B., Romanelli B. E. A., 1992), but this formulation is used mainly by foreign authors.

The frequency of dysplastic heart is 86% among individuals with primary undifferentiated CTD (G. N. Vereshchagina, 2008).

According to modern concepts, DSTS syndrome includes prolapses of the heart valves, aneurysms of the interatrial septum and sinuses of Valsalva, ectopically attached chords of the mitral valve, and many others.

The pathology is based on the inferiority of the extracellular matrix, its collagen structures.

Dysplastic heart form:

I. Constitutional features - "drip", "hanging" heart, its rotation around the sagittal and longitudinal axis.

II. Bone-vertebral dysplasia and deformities with compression, rotation, displacement of the heart and torsion of large vessels: according to Urmonas V.K. et al. (1983). Deformities of the chest and spine lead to the development of thoraco-diaphragmatic syndrome, which limits the work of all organs of the chest.

III. Features of the structure of the heart and blood vessels:

Excess tissue of the leaflets of the mitral, tricuspid and aortic valves;

Prolapse of the mitral valve leaflets (MVK) with regurgitation;

Myxomatous degeneration of cusps, chords, valve ring;

Valvular-ventricular dissociation;

Bicuspid aortic valve;

Elongation, excessive mobility of chords;

Ectopically attached chords;

Increased trabecularity of the left ventricle (LV);

Open oval window;

Atrial septal aneurysm (small);

Dilatation of the sinuses of Valsalva;

Ventriculo-septal features of the left ventricle: transient systolic ridge of the upper third of the interventricular septum (IVS), S-shaped bend of the IVS;

Tortuosity, hypoplasia, aplasia, fibromuscular dysplasia of the coronary arteries;

Aneurysms of the coronary arteries;

myocardial bridges;

Conducting system anomalies;

Expansion of the proximal part of the aorta, pulmonary trunk;

Hypoplasia of the aorta, borderline narrow aortic root, hypoplasia of the pulmonary trunk;

Systemic failure of the venous wall - varicose veins of the upper and lower extremities, small pelvis, vulva, varicocele.

IV. Pathology of the respiratory system with a decrease in lung capacity:

Diffuse and bullous emphysema;

Multiple fistulas;

Repeated spontaneous pneumothoraxes;

bronchiectasis;

Cystic hypoplasia of the lungs.

Myxomatous degeneration of cusps, chords, and subvalvular structures is a genetically determined process of destruction and loss of architectonics of collagen and elastic structures of connective tissue with accumulation of acid mucopolysaccharides in the loose fibrous layer. There are no signs of inflammation. It is based on a defect in the synthesis of type III collagen, which leads to a thinning of the fibrous layer, the valves are enlarged, loose, redundant, the edges are twisted, sometimes a fringe is determined. The primary locus of autosomal dominant myxomatosis in MVP is localized on chromosome 16. Morales A. B. (1992) identifies myxoid heart disease.

In population studies, the phenomenon of MVP was detected in 22.5% of children under the age of 12 years. In children with DST, MVP is found much more often - in 45-68%.

Clinical manifestations of MVP in children vary from minimal to significant and are determined by the degree of connective tissue dysplasia of the heart, vegetative and neuropsychiatric abnormalities.

Most older children complain of short-term chest pain, palpitations, shortness of breath, a feeling of interruption in the heart, dizziness, weakness, headaches. Children characterize pains in the heart as stabbing, pressing, aching and feel in the left half of the chest without any irradiation. They arise in connection with emotional stress and are usually accompanied by vegetative disorders: unstable mood, cold extremities, palpitations, sweating, disappear spontaneously or after taking sedatives. Absence in most cases of ischemic changes in the myocardium according to comprehensive examination allows us to regard cardialgia as a manifestation of sympathalgia associated with the psycho-emotional characteristics of children with MVP. Cardialgia in MVP may be associated with regional ischemia of the papillary muscles with their excessive tension. Heartbeat, feeling of "interruptions" in the work of the heart, "tingling", "fading" of the heart are also associated with neurovegetative disorders. Headaches often occur with overwork, worries, morning hours before the start of classes at school and are combined with irritability, sleep disturbance, anxiety, dizziness.

On auscultation characteristic features mitral valve prolapse are isolated clicks (clicks), a combination of clicks with late systolic murmur, isolated late systolic murmur, holosystolic murmur.

The origin of the noise is associated with turbulent blood flow associated with bulging of the valves and vibration of the stretched chords. Late systolic murmur is heard better in the supine position on the left side, increases during the Valsalva test. The nature of the noise can change with deep breathing. On exhalation, the noise intensifies and sometimes acquires a musical tone. Quite often the combination of systolic clicks and late noise most clearly comes to light in vertical position after an exercise stress. Sometimes at a combination of systolic clicks with late noise in vertical position holosystolic noise can be registered.

Holosystolic murmur with primary mitral valve prolapse is rare and indicates the presence of mitral regurgitation. This noise occupies the entire systole and practically does not change in intensity with a change in body position, is carried out to the axillary region, and increases during the Valsalva test.

The main methods for diagnosing MVP are two-dimensional Echo-KG and Dopplerography. MVP is diagnosed with a maximum systolic displacement of the mitral valve leaflets beyond the line of the mitral valve ring in the parasternal longitudinal position by 3 mm or more. The presence of an isolated displacement of the anterior leaflet beyond the line of the mitral valve ring in the four-chamber apical position is not enough to diagnose MVP, this is the main reason for its overdiagnosis.

Echo-KG classification of myxomatous degeneration (MD) (G. I. Storozhakov, 2004):

MD 0 - no symptoms.

MD I - minimally pronounced: thickening of the valves 3-5 mm, arcuate deformation of the mitral opening within 1-2 segments. The closure of the valves is preserved.

MD II - moderately pronounced: thickening of the valves 5-8 mm, elongation of the valves, deformation of the contour of the mitral opening, its stretching, violation of the closure of the valves. mitral regurgitation.

MD III - pronounced: thickening of the valves is more than 8 mm, the valves are elongated, multiple ruptures of the chords, a significant expansion of the mitral annulus, there is no closure of the valves. Multivalvular lesion. dilatation of the aortic root. mitral regurgitation.

The degree of regurgitation in MVP depends on the presence and severity of myxomatous degeneration, the number of prolapsing leaflets, and the depth of prolapse.

Degrees of regurgitation:

0 - regurgitation is not registered.

I - minimal - the jet of regurgitation penetrates into the cavity of the left atrium no more than one third of the atrium.

II - medium - the jet of regurgitation reaches the middle of the atrium.

III - severe - regurgitation throughout the left atrium.

At rest, mitral regurgitation (MR) of the first degree is diagnosed in 16-20%, the second degree - in 7-10% and the third degree - in 3-5% of children with MVP.

The prognosis of a patient with MVP determines the degree of mitral regurgitation. At the same time, any degree of prolapse leads to changes in myocardial perfusion, changes more often in the area of the anterior wall of the left ventricle and the interventricular septum (Nechaeva G. I., Viktorova I. A., 2007)).

Severe complications from MVP in children are rare. They are: life-threatening arrhythmias, infective endocarditis, thromboembolism, acute or chronic mitral insufficiency, and even sudden death.

Acute mitral insufficiency occurs due to the detachment of the tendon filaments from the mitral valve cusps (dangling valve syndrome - loppy mitral valve), in childhood it is observed casuistically rarely and is mainly associated with chest trauma in patients with myxomatous degeneration of the chords. The main pathogenetic mechanism of acute mitral insufficiency is pulmonary venous hypertension, which occurs due to a large volume of regurgitation in an insufficiently extensible left atrium. Clinical symptoms are manifested by the sudden development of pulmonary edema.

In children, mitral insufficiency with MVP is most often asymptomatic and is diagnosed by Doppler echocardiography. Subsequently, with the progression of regurgitation, complaints of shortness of breath during physical exertion, a decrease in physical performance, weakness, and a lag in physical development appear.

Risk factors for the development of "pure" (non-inflammatory) mitral insufficiency in prolapse syndrome according to two-dimensional echocardiography are:

Dilatation of the left atrioventricular orifice.

Prolapse predominantly of the posterior mitral leaflet.

Thickening of the posterior mitral leaflet.

MVP is a high risk factor for infective endocarditis. The absolute risk of developing the disease is 4.4 times higher than in the population.

Diagnosis of infective endocarditis in MVP presents certain difficulties. Since the leaflets with prolapse are excessively scalloped, this does not allow us to detect the beginning of the formation of bacterial vegetations according to echocardiography. Therefore, the main importance in the diagnosis of endocarditis is played by: 1) clinical symptoms infectious process (fever, chills, rash, and other symptoms), 2) the appearance of mitral regurgitation noise and the fact of detection of the pathogen during repeated blood cultures.

The frequency of sudden death in MVP syndrome depends on many factors, the main of which are electrical myocardial instability in the presence of long QT syndrome, ventricular arrhythmias, concomitant mitral insufficiency, and neurohumoral imbalance.

The risk of sudden death in the absence of mitral regurgitation is low and does not exceed 2:10,000 per year, while with concomitant mitral regurgitation it increases 50-100 times.

In most cases, sudden death in patients with MVP is of arrhythmogenic origin and is due to the sudden onset of idiopathic ventricular tachycardia (fibrillation) or against the background of long QT interval syndrome.

In rare cases, sudden cardiac death in patients with MVP may be based on a congenital anomaly of the coronary arteries (abnormal origin of the right or left coronary artery), leading to acute myocardial ischemia and necrosis.

Thus, the main risk factors for sudden death in children with MVP syndrome are: ventricular arrhythmias of III-V gradation according to Lown; prolongation of the corrected QT interval over 440 ms; the appearance of ischemic changes on the ECG during exercise; cardiogenic fainting in history.

DSTS are one of the unfavorable factors predisposing to the development of arrhythmic complications in childhood and adolescence, including hemodynamically significant ones. In the structure of rhythm disturbances in children with DSTS, over ventricular extrasystole in a pathological amount and ventricular extrasystole, interconnected with the degree of cardiac dysplasia (Gnusaev S.F., et al., 2006).

Morphological manifestations of DSTS syndrome in children with concomitant kidney pathology, according to T. M. Domnitskaya, V. A. Gavrilova (2000), are: spherical or triangular shape heart, rounding of the apex of the heart, an increase in heart mass by 1.4-2.5 times, thickening and shortening of the chords of the mitral valve, discharge of chords in the form of a fan, hypertrophy of the papillary muscles, funnel-shaped mitral valve, open oval window. Myxomatous degeneration of the atrioventricular valve leaflets was observed in most patients with DSTS syndrome and diseases of the urinary system (its frequency ranged from 66.7% to 77%). Endocardial fibroelastosis was detected in 10 children of the analyzed group.

In a population of children, displacement of the septal leaflet was most often detected. tricuspid valve into the cavity of the ventricle within 10 mm, impaired distribution of the chords of the anterior leaflet of the mitral valve, dilatation of the sinuses of Valsalva, enlarged Eustachian valve more than 1 cm, dilatation of the trunk pulmonary artery, MVP, diagonally located trabeculae in the cavity of the left ventricle.

The tactics of managing children with primary MVP differ depending on the severity of leaflet prolapse, the nature of vegetative and cardiovascular changes. The main principles of treatment are: 1) complexity; 2) duration; 3) taking into account the direction of the functioning of the autonomic nervous system.

Mandatory is the normalization of work, rest, daily routine, compliance with the correct regimen with adequate sleep.

The issue of physical education and sports is decided individually after the physician evaluates the indicators of physical performance and adaptability to physical activity. Most children in the absence of mitral regurgitation, severe violations of the repolarization process and ventricular arrhythmias satisfactorily tolerate physical activity. With medical supervision, they can lead an active lifestyle without any restrictions on physical activity. Children can be recommended swimming, skiing, skating, cycling. Sports activities associated with the jerky nature of movements (jumping, karate wrestling, etc.) are not recommended. The detection of mitral regurgitation, ventricular arrhythmias, changes in metabolic processes in the myocardium, prolongation of the QT interval in a child dictates the need to limit physical activity and sports. These children are allowed to engage in physiotherapy exercises under the supervision of a doctor.

Treatment is based on the principle of restorative and vegetotropic therapy. The whole complex of therapeutic measures should be built taking into account the individual characteristics of the patient's personality and the functional state of the autonomic nervous system.

An important part complex treatment for children with DSTS is non-drug therapy: psychotherapy, auto-training, physiotherapy (electrophoresis with magnesium, bromine in the region of the upper cervical spine), water procedures, acupuncture, spinal massage. The doctor's attention should be directed to the rehabilitation of chronic foci of infection, according to indications, a tonsillectomy is performed.

Drug therapy should be aimed at: 1) treatment of vegetative-vascular dystonia; 2) prevention of myocardial neurodystrophy; 3) psychotherapy; four) antibacterial prophylaxis infective endocarditis.

With moderate manifestations of sympathicotonia, phytotherapy is prescribed sedative herbs, tincture of valerian, motherwort, collection of herbs (sage, ledum, St. John's wort, motherwort, valerian, hawthorn), which at the same time has a slight dehydration effect. If there are changes in the repolarization process on the ECG, rhythm disturbances, courses of treatment with drugs that improve metabolic processes in the myocardium (panangin, carnitine, Kudesan, vitamins) are carried out. Carnitine is prescribed at a dose of 50 mg / kg per day for 2-3 months. Carnitine plays a central role in lipid and energy metabolism.

Being a cofactor of beta-oxidation of fatty acids, it transfers acyl compounds (fatty acids) through mitochondrial membranes, prevents the development of myocardial neurodystrophy, and improves its energy metabolism. In our studies, 35 children with extrasystole (more than 15 per minute) included carnitine in the complex therapy. At the end of treatment in 25 children, extrasystole significantly decreased, in 10 children it was not detected.

A favorable effect was noted from the use of Coenzyme Q10®, which significantly improves bioenergetic processes in the myocardium and is especially effective in secondary mitochondrial insufficiency.

Early diagnosis of CTD in children allows for appropriate rehabilitation therapy and prevention of disease progression. One of the most striking therapeutic results is the effective treatment of children with CTD (mainly with MVP) with the help of a magnesium-containing preparation of magnesium orotate - Magnerot®. The choice of the drug was due to the known properties of the magnesium ion, observed in class I and IV antiarrhythmic drugs (membrane stabilizing and calcium antagonists), as well as the absence side effects that may appear with the use of traditional antiarrhythmic therapy. It was also taken into account that the active substance of the drug is magnesium orotate, which, by inducing protein synthesis, participating in the metabolism of phospholipids, which are an integral part of cell membranes, is necessary for the fixation of intracellular magnesium (Gromova O. A., 2007).

Magnerot® was used as monotherapy at a dose of 40 mg/kg per day for the first 7 days of administration, then at 20 mg/kg per day for 6 months. The result of the treatment was a decrease by 20-25% in the depth of prolapse of the mitral valve leaflets and a decrease in the degree of regurgitation by 15-17%. Therapy with Magnerot® did not affect the size of the left heart and myocardial contractility, the parameters of which were within the normal range before treatment.

In studies conducted by E. N. Basargina (2008), an antiarrhythmic effect of the drug Magnerot® was revealed. During daily ECG monitoring in children of the 2nd and 3rd groups, a decrease in the number of ventricular complexes by 50% or more was noted in 18 (27.7%) patients. Moreover, in 6 children, the disappearance of ventricular arrhythmia or a decrease in the number of ventricular complexes to 30-312 per day was noted. In 14 (21.5%) children, the number of ventricular complexes decreased by at least 30%. Two patients showed an increase in the number of ventricular extrasystoles up to 30% of the initial level. Thus, the antiarrhythmic efficacy of Magnerot® was 27.7%. Similar results were previously obtained in other studies (Domnitskaya T. M. et al., 2005).

At the same time, rare supraventricular and ventricular extrasystoles, if not combined with long QT syndrome, as a rule, do not require the appointment of any antiarrhythmic drugs.

Thus, children with DSTS syndrome need timely diagnosis using doppler echocardiography, electrocardiography, in some cases daily ECG monitoring, individual therapy and observation by a pediatric cardiologist.

Therapy with Magnerot® in children with DSTS syndrome leads to a decrease in the signs of valve prolapse, the frequency of detection of mitral regurgitation, a decrease in the severity of clinical manifestations of autonomic dysfunction, the frequency of ventricular arrhythmias, accompanied by an increase in the level of intraerythrocytic magnesium.

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S. F. Gnusaev, doctor of medical sciences, professor

GOU VPO Tver State Medical Academy of Roszdrav, Tver